PTK2, protein tyrosine kinase 2, 5747

N. diseases: 205; N. variants: 21
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs771308693
rs771308693 		8 140752306 missense variant G/A snv 3.2E-05 7.0E-06
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs776599337
rs776599337 		1.000 0.040 8 140744759 frameshift variant TG/- del
CUI: C0079218
Disease: Fibromatosis, Aggressive
Fibromatosis, Aggressive 		Neoplasms 0.010 1.000 1 2018 2018